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Moreover, AC patients showed impaired LV-GLS (p0.001), LV-GRS (p0.001), LV-GCS (p0.001) and RV-GRS (p0.026) as compared to control subjects. Group1 patients showed a significant reduction of LV-GRS (p0.05) and LV-GCS p0.01) as compared to control subjects. At univariate analysis LV-GCS was the most discriminatory parameter between Group1 vs heathy subjects with an optimal cut-off of -15.8 (Sensitivity 74%; Specificity 10%). In patients with AC biopsy-proven, CMR-FT could improve the diagnostic yield in the

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3-G592R-encoding mutation, the same ASO reduced Tbk1 activation and levels of Cd63, while restoring the expression of Hax-1 in the cerebellum. The motor behavior of the mice was tested using a rotarod assay. Surprisingly, the active ASO had no effects on the motor behavior of wild type mice but restored the behavior of the mutant mice to those of age-matched wild type animals. Our findings indicate that, in mature intact animals, suppression of Kv3.3 expression can reverse the deleterious effects of a SCA13 mutation while having little ef